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Phelan-McDermid syndrome is a rare genetic disorder characterised by various neurodevelopmental, medical, and psychiatric issues. Although bipolar disorder-like presentations and catatonia are particularly common, psychosis has also been reported but is less well described. As such, this systematic review sought to characterise the phenomenology of psychosis in Phelan-McDermid syndrome, clarify the association of psychotic symptoms with other neuropsychiatric features of the disorder, and describe antipsychotic treatment response.
Methods:
A literature search was completed in July 2024 using PubMed and Scopus. Only English-language articles that reported the occurrence of psychotic symptoms in Phelan-McDermid syndrome were eligible for inclusion. 18 articles describing 35 individuals were included in the main analyses. Three additional articles of relevance are discussed separately, as they either provided limited clinical information or did not present data in a patient-specific manner.
Results:
The average age of psychosis onset was ∼17 years, and 65% of individuals developed symptoms at or before age 15. ∼69% of individuals also experienced catatonia, ∼81% experienced mood symptoms, and 50% experienced both. Visual hallucinations were the most commonly reported psychotic symptom. Where reported, ∼76% of individuals exhibited at least a partial and/or temporary response to antipsychotic therapy.
Conclusion:
Psychotic presentations in Phelan-McDermid syndrome may qualitatively differ from schizophrenia. Although numerous antipsychotics may be efficacious in the treatment of Phelan-McDermid syndrome-associated psychosis, this review most importantly highlights the paucity of available high-quality evidence to guide treatment decisions in this respect, and as such indicates the need for more reports to be published.
After the rapid implementation of digital health services during the COVID-19 pandemic, a paucity of research exists about the suitability of remote consulting in people with intellectual disabilities and their carers, particularly for neuropsychiatric reviews.
Aim
This study examines when remote neuropsychiatric routine consulting is suitable for this population.
Method
A survey was conducted of people with intellectual disabilities and their carers, examining their preference between face-to-face and video consultations for ongoing neuropsychiatric reviews within a rural countywide intellectual disability service in Cornwall, England (population: 538 000). The survey was sent to all adults with intellectual disabilities open to the service on 30 July 2022, closing on 30 September 2022. Participants were asked to provide responses on 11 items predesigned and co-produced between clinicians and experts by experience. The entire service caseload of people had White ethnicity, reflecting the ethnic demographics of Cornwall. Responses received without consent were excluded from the study dataset.
Results
Of 271 eligible participants, 119 responses were received, 104 of whom consented to having their anonymised data used for research analysis. There were no significant differences between preferences and age and gender variables. There was no statistically significant difference regarding preference for the reintroduction of face-to-face appointments (52.0%) compared with video consultations (48.0%). Travel distance (>10 miles) to the clinical setting was important but did not outweigh benefits for those preferring a face-to-face appointment.
Conclusions
This study offers insights into the factors that influence preferences about what type of neuropsychiatric appointment is most suitable for people with intellectual disabilities.
Despite having the same underlying genetic etiology, individuals with the same syndromic form of intellectual developmental disability (IDD) show a large degree of interindividual differences in cognition and IQ. Research indicates that up to 80% of the variation in IQ scores among individuals with syndromic IDDs is attributable to nongenetic effects, including social-environmental factors. In this narrative review, we summarize evidence of the influence that factors related to economic stability (focused on due to its prevalence in existing literature) have on IQ in individuals with syndromic IDDs. We also highlight the pathways through which economic stability is hypothesized to impact cognitive development and drive individual differences in IQ among individuals with syndromic IDDs. We also identify broader social-environmental factors (e.g., social determinants of health) that warrant consideration in future research, but that have not yet been explored in syndromic IDDs. We conclude by making recommendations to address the urgent need for further research into other salient factors associated with heterogeneity in IQ. These recommendations ultimately may shape individual- and community-level interventions and may inform systems-level public policy efforts to promote the cognitive development of and improve the lived experiences of individuals with syndromic IDDs.
One-third to half of people with intellectual disabilities suffer from chronic constipation (defined as two or fewer bowel movements weekly or taking regular laxatives three or more times weekly), a cause of significant morbidity and premature mortality. Research on risk factors associated with constipation is limited.
Aims
To enumerate risk factors associated with constipation in this population.
Method
A questionnaire was developed on possible risk factors for constipation. The questionnaire was sent to carers of people with intellectual disabilities on the case-loads of four specialist intellectual disability services in England. Data analysis focused on descriptively summarising responses and comparing those reported with and without constipation.
Results
Of the 181 people with intellectual disabilities whose carers returned the questionnaire, 42% reported chronic constipation. Constipation was significantly associated with more severe intellectual disability, dysphagia, cerebral palsy, poor mobility, polypharmacy including antipsychotics and antiseizure medication, and the need for greater toileting support. There were no associations with age or gender.
Conclusions
People with intellectual disabilities may be more vulnerable to chronic constipation if they are more severely intellectually disabled. The associations of constipation with dysphagia, cerebral palsy, poor mobility and the need for greater toileting support suggests people with intellectual disabilities with significant physical disabilities are more at risk. People with the above disabilities need closer monitoring of their bowel health. Reducing medication to the minimum necessary may reduce the risk of constipation and is a modifiable risk factor that it is important to monitor. By screening patients using the constipation questionnaire, individualised bowel care plans could be implemented.
Using two composite case studies the following chapter outlines the intersection of legal and forensic pathways to justice for persons with developmental disabilities in Ontario, Canada. Their pathways include a number of junctures where decision making by different stakeholders across sectors is required pertaining to legal determinations of either criminal fitness to stand trial and culpability as well as the health care presence of a contributory mental illness or disorder. Despite having similar profiles, people with developmental disabilities can have vastly different access, processes, and outcomes depending upon a number of variables including legal factors such as the severity of the offence and offence history; and extralegal factors including support network, discretion of multiple decision makers, legal resources and jurisdiction. The pathways recognise the importance and need for ensuring equitable and therapeutic justice for such individuals.
An area of interest presently is the lingering symptoms after COVID-19, i.e. post-COVID-19 syndrome (PCS). Specifics of diagnosis and management of PCS are emerging. However, vulnerable populations such as those with intellectual disabilities, who were disproportionately affected by the pandemic, risk being ‘left behind’ from these considerations.
It is widely known that pretend play and creativity are essential developmental processes for typically developing children, but there has been little collective examination of the role of creative play in children with developmental disabilities. In this chapter, we review the importance of creativity for children with various developmental disabilities, with a specific focus on pretend play. Research over the past decade in disorders such as autism spectrum disorder (ASD), Down Syndrome (DS), cerebral palsy (CP), Prader-Willi Syndrome (PWS), and Williams Syndrome (WS) indicates that pretend play is a development skill area where many of these children show deficits, and these deficits may be impactful on their ability to develop appropriate social, emotional, cognitive, and behavioral skills associated with pretend play. Recent research also suggests that pretend play can be used as a means of intervention to improve the play skills and associated skills of socioemotional and cognitive-behavioral functioning in children with developmental disabilities. Future study should examine the use of increasingly accessible means of pretend play intervention, such as telehealth, and focus on how parent-training interventions can be utilized to effectively implement pretend play for children with developmental disabilities at an early age.
The presence of excessive mirror overflow in children with Attention Deficit/Hyperactivity Disorder (ADHD) is discussed in numerous published reports. These reports, however, include a limited age range in their samples. The objective of this study is to examine the effects of diagnosis and sex on mirror overflow and standard deviation (SD) of tap time in children with and without ADHD across a larger age range (5–12 years) of children.
Methods:
One-hundred and forty-eight children with ADHD and 112 age- and sex-matched typically developing (TD) children completed a finger sequencing task. Mirror overflow, SD of tap time, and mean tap time were measured using finger twitch transducers.
Results:
Results reveal a significant diagnostic effect on mirror overflow such that boys and girls with ADHD demonstrate increased overflow compared to same-sex TD children. Boys with ADHD demonstrated more variable tap times compared to TD boys; no diagnostic effect was observed in the girls.
Conclusions:
Boys with ADHD exhibit anomalous motor variability; girls with ADHD show similar levels of variability as TD girls. Boys and girls with ADHD exhibit similar levels of excessive mirror overflow. This lack of sex differences on mirror overflow is distinct from reports finding sex effects on overflow and could result from an examination of a broader age range than is included in prior reports. Adolescent data would provide a greater understanding of the trajectory of anomalous mirror overflow across development. Examination of functional and structural connectivity would expand the current understanding of the neurobiological foundation of motor overflow.
In Ontario, there are approximately 66,000 adults living with a diagnosis of intellectual and developmental disabilities (IDD). These individuals are nearly twice as likely to experience an injury compared to the general population. Falls are an important contributor to injuries in persons with IDD and in the general population, and are consistently found to be the leading cause of traumatic brain injury (TBI). There is currently no literature that quantitatively examines TBI among persons with IDD. The purpose of this study was to compare the risk of TBI for adults with and without IDD in Ontario over time and by demographic information.
Methods:
Using administrative health databases, two main cohorts were identified: (1) adults with IDD, and (2) a random 10% sample of adults without IDD. Within each cohort, annual crude and adjusted incidence of TBI were calculated among unique individuals for each fiscal year from April 1, 2002 to March 31, 2017.
Results:
Over the 15-year study period, the average annual adjusted incidence of TBI was approximately 2.8 new cases per 1000 among Ontario adults with IDD, compared to approximately 1.53 per 1000 among those without IDD. In both cohorts, a higher proportion of TBI cases were younger (19–29 years) and male.
Conclusions:
During the study period, persons with IDD experienced a significantly higher risk of TBI compared to the general population indicating the possibility, and need, for targeted TBI prevention.
Through the writings of Jean Vanier, this paper encourages Catholic theologians to examine critically their theological sources and their own rhetoric for the context of developmental disabilities. Specifically, this thought experiment is an invitation for the Catholic academy to consider how its theologies of charity can assist the church to reflect on its pastoral ministry to people with developmental disabilities. Some Catholic discourse is built on an assumed one-directional concept of charity that emphasizes the agency and gifts of the giver over the receiver. Such a one-sided model of hospitality tends to emphasize the giver as the person without developmental disabilities, whereas the person with disabilities is described as the receiver of hospitality; their own gifts and agency thereby are either unacknowledged or downplayed. This paper argues, instead, that Catholic theologies of charity, particularly regarding developmental disabilities, should be built on a mutuality that affirms each person's agency to be both a giver and a receiver of charity.
Parents of children with cognitive disabilities and professionals from specialized institutions both face a lack of adapted educative tools for these children. Dealing with this situation, one parent has set up a collaborative project to create digital tools based on the latest advances of the scientific research. Recent studies have shown the appetite of these children for digital supports, with increased motivation and attention with tablet support compared to classic support. Starting from this observation, a team of ABA psychologists, speech therapists, teachers and IT engineers has designed a multidisciplinary tool, which has been tested by parents and professionals from specialized institutions. We will present two projects, one that took place in institutions, the other that took place in schools. These two projects aimed to assess how digital tools can be used for deploying the best practices and promoting inclusive education, in line with scientific research. LearnEnjoy proposed a pilot project between October 2013 and October 2014 in connection with 22 specialized institutions and volunteer families. This experimentation showed that tablets and the LearnEnjoy educational applications create a dynamic in professional teams, between parents and professionals, and between professionals and service users. This device provides additional structuring of work and facilitates the transmission of information. It also helps to spread the culture of evaluation within specialized institutions. LearnEnjoy also worked in collaboration with the French Education Ministry for the project Educare. This project aimed to support the inclusive school and individual monitoring, through regular monitoring of student progress and the establishment of an adapted school report book respectful of the National Education program. This project took place in 13 structures, ordinary and specialized classes. This experimentation showed that LearnEnjoy educational applications are beneficial for both students and teachers and create a positive dynamic in the classroom.
Objectives: Attention-deficit/hyperactivity disorder (ADHD) is a common neurological disorder with symptom onset early in childhood. Growing evidence suggests anomalous brain development across multiple brain regions is evident in school-aged children; however, few studies have examined whether such differences are notable in the preschool years when symptom onset typically occurs. Methods: High resolution anatomical (MPRAGE) images and cognitive and behavioral measures were analyzed in a total of 90 medication-naïve preschoolers, ages 4–5 years (52 with ADHD, 38 controls; 64.4% boys). Results: Results revealed reductions in bilateral frontal, parietal, and temporal lobe gray matter volumes in children with ADHD relative to typically developing children, with largest effect sizes noted for right frontal and left temporal lobe volumes. Examining frontal lobe sub-regions, the largest between group effect sizes were evident for left orbitofrontal cortex, left primary motor cortex (M1), and left supplementary motor complex (SMC). ADHD-related reductions in specific sub-regions (left prefrontal, left premotor, left frontal eye field, left M1, and right SMC) were significantly correlated with symptom severity, such that higher ratings of hyperactive/impulsive symptoms were associated with reduced cortical volumes. Conclusions: These findings represent the first comprehensive examination of cortical volume in preschool children with ADHD, providing evidence that anomalous brain structure in ADHD is evident very early in development. Furthermore, findings set the stage for developing our understanding of the way in which developmental trajectories of anomalous brain development are associated with the unfolding of symptoms in childhood ADHD. (JINS, 2018, 24, 531–539)
Students with developmental disabilities have many challenges with learning and adaptive behaviour, as well as a higher prevalence rate of mental health problems. Although there is a substantial body of evidence for efficacious interventions for enhancing resilience and promoting mental health in typically developing children, very few programs have been modified for use with students with developmental disabilities. In this article we present two interventions (Aussie Optimism and the Resourceful Adolescent Program) that have been rigorously tested with typically developing students and subsequently adapted and evaluated for their effectiveness for students with developmental disabilities. The article highlights the critical importance of using interventions with a robust evidence base, and the important role for school psychologists and counsellors in program selection, implementation, and evaluation.
Developmental disabilities include limitations in function and activities resulting from disorders of the developing nervous system in conjunction with unaccommodating environments or absence of assistive technologies. This chapter discusses key principles and considerations in designing and implementing screening programs and epidemiologic studies of developmental disabilities. The epidemiologic studies in low- and middle-income countries were frequently conducted by foreign researchers and sometimes characterized as "helicopter epidemiology". One of the challenges of epidemiologic studies of disability is that case status is often based on information obtained from questionnaires or cognitive tests that are designed and validated for use in one language and culture, and may not be applicable for or capable of generating comparable data across cultures. It is likely that for the majority of the world's children with developmental disabilities, obtaining an accurate diagnosis, though an important step, comes with no guarantee that coordinated services and appropriate services will be available.
A survey of service providers was undertaken to identify issues regarding the provision of service to aging adults with developmental disabilities (DD). Seventy-five questionnaires were sent to 38 agencies involved in the support of older adults with and without disabilities. Forty-four or 59 per cent of surveys were returned. Results suggested that service providers did not feel adequately trained to address many of the needs of aging adults with DD. Respondents requested additional training in dealing with such issues as the health and medical concerns of older adults with DD, and recreational and retirement planning for aging clients with DD. Service providers also required assistance from professionals such as psychologists and medical personnel who were knowledgeable about aging and/or DD. Results were consistent with previous surveys in finding that training for service providers and medical/health care support were key issues. The information reported here updates and extends our knowledge of the needs of those involved in the support of aging adults with DD in the Canadian service sector and details the specific types of information and support required. Preliminary recommendations for modifications to service delivery, policy, and educational programs, are offered.
The purpose of this study was to determine whether an interview protocol, based on the Friendship Quality Questionnaire, could be adapted to examine the close relationships of children with developmental disabilities in an inclusive school setting. Twenty-five children with developmental disabilities aged between approximately 5 and 12 years participated and their relationships with 74 peers were examined. Several adaptations to the procedures and interview instrument were evaluated, including gathering interview data from multiple sources and the development of a short form of the interview questionnaire. Overall, the adaptations to procedures used in the current study appeared successful in catering for the wide range of abilities and ages among respondents. This was reflected in the reliability of children's responses, high response rates on the short interview form, and good correspondence between the short and full interview forms. The described adaptations were successful in eliciting information on aspects of children's relationships that might not have been obtained using a traditional interview instrument. This opens the way for further detailed quantitative evaluation of relationships between children with developmental disabilities and peers in inclusive settings.
Inclusive education has become more common in schools, and children with developmental disabilities have had greater opportunities to interact, and hopefully establish relationships with their typically developing peers. While the quality of friendships between typically developing children has been examined in detail, relatively little comparable data is available on children with developmental disabilities. The current study provided an examination of the characteristics of the closest relationships between children with developmental disabilities and peers in inclusive school settings. Twenty-five children with developmental disabilities aged between approximately 5 and 12 years participated. Using an interview instrument, the relationships of these children with 74 peers were examined across six dimensions. Overall, dyads were found to be high in Validation and Caring as well as Help and Guidance, followed by slightly lower levels of Companionship. Intimate Exchange was reported to be lower. Conflict among dyads was also low, and Conflict Resolution was reported to be high when problems did occur. There was a clear differentiation between the highest- and lowest-ranked dyads for children with a disability. Overall, the features of the relationships between children with disabilities and their highest-ranked peer appeared similar in nature to those previously reported between typically developing peers.
The way people come to report private stimulation (e.g., feeling states) arising within their own bodies is not well understood. Although the Darwinian assumption of biological continuity has been the basis of extensive animal modeling for many human biological and behavioral phenomena, few have attempted to model human communication based on private stimulation. This target article discusses such an animal model using concepts and methods derived from the study of discriminative stimulus effects of drugs and recent research on interanimal communication. We discuss how humans acquire the capacity to identify and report private stimulation and we analyze intra- and interspecies differences in neurochemical mechanisms for transducing interoceptive stimuli, enzymatic and other metabolic factors, learning ability, and discrimination learning histories and their relation to psychiatric and developmental disabilities.
As currently defined, it is not clear whether Nonverbal Learning
Disabilities (NLD) should be considered a matter of kind or magnitude
(Meehl, 1995). The taxonicity of NLD, or the
degree to which it is best construed as discrete versus
continuous, has not been investigated using methods devised for this
purpose. Latent Class Analysis (LCA) is a method for finding subtypes of
latent classes from multivariate categorical data. This study represents
an application of LCA on a sample of children and adolescents with spina
bifida myelomeningocele (SBM) (N = 44), those presenting with
features of NLD (N = 28) but no medical condition, and control
volunteers (N = 44). The two-class solution provided evidence for
the presence of a taxon with an estimated base-rate in the SBM group of
.57. Indicator validities (the conditional probabilities of indicator
endorsement in each latent class) suggest a somewhat different priority
for defining NLD than is typically used by researchers investigating this
disorder. A high degree of correspondence between LCA classifications and
those based on a more conventional algorithm provided evidence for the
validity of this approach. (JINS, 2007, 13,
50–58.)